UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133353797_133353799delinsGTT | CA1882635646 | SURF1 | c.465_467delinsAAC (p.Ser155=) n.411_413delinsAAC n.455_457delinsAAC c.138_140delinsAAC (p.Ser46=) | |
| 9 | g.133353798T>A | CA375694221 | SURF1 | c.466A>T (p.Thr156Ser) n.412A>T n.456A>T c.139A>T (p.Thr47Ser) | |
| 9 | g.133353798T>C | CA375694222 | SURF1 | c.466A>G (p.Thr156Ala) n.412A>G n.456A>G c.139A>G (p.Thr47Ala) | |
| 9 | g.133353798T>G | CA375694223 | SURF1 | c.466A>C (p.Thr156Pro) n.412A>C n.456A>C c.139A>C (p.Thr47Pro) | |
| 9 | g.133353798_133353799del | CA913190175 | SURF1 | c.465_466del (p.Thr156SerfsTer23) n.411_412del n.455_456del c.138_139del (p.Thr47SerfsTer23) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133353798_133353809delinsTTGAGGAGGAGA | CA1882635649 | SURF1 | c.455_466delinsTCTCCTCCTCAA (p.Ile152=) n.401_412delinsTCTCCTCCTCAA n.445_456delinsTCTCCTCCTCAA c.128_139delinsTCTCCTCCTCAA (p.Ile43=) | |
| 9 | g.133353799_133353802delinsTGAG | CA1882635651 | SURF1 | c.462_465delinsCTCA (p.Ser154=) n.408_411delinsCTCA n.452_455delinsCTCA c.135_138delinsCTCA (p.Ser45=) | |
| 9 | g.133353804_133353814del | CA200832988 | SURF1 | c.455_465del (p.Ile152AsnfsTer24) n.401_411del n.445_455del c.128_138del (p.Ile43AsnfsTer24) | dbSNP gnomAD v4 |
| 9 | g.133353800G>A | CA375694225 | SURF1 | c.464C>T (p.Ser155Leu) n.410C>T n.454C>T c.137C>T (p.Ser46Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353800G>C | CA375694226 | SURF1 | c.464C>G (p.Ser155Ter) n.410C>G n.454C>G c.137C>G (p.Ser46Ter) | dbSNP |
| 9 | g.133353800G= | CA1882635653 | SURF1 | c.464C= (p.Ser155=) n.410C= n.454C= c.137C= (p.Ser46=) | |
| 9 | g.133353800G>T | CA375694224 | SURF1 | c.464C>A (p.Ser155Ter) n.410C>A n.454C>A c.137C>A (p.Ser46Ter) | |
| 9 | g.133353806_133353808del | CA200832991 | SURF1 | c.462_464del (p.Ser155del) n.408_410del n.452_454del c.135_137del (p.Ser46del) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353801A= | CA1882635655 | SURF1 | c.463T= (p.Ser155=) n.409T= n.453T= c.136T= (p.Ser46=) | |
| 9 | g.133353801A>C | CA375694228 | SURF1 | c.463T>G (p.Ser155Ala) n.409T>G n.453T>G c.136T>G (p.Ser46Ala) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353801A>G | CA375694227 | SURF1 | c.463T>C (p.Ser155Pro) n.409T>C n.453T>C c.136T>C (p.Ser46Pro) | gnomAD v4 |
| 9 | g.133353801A>T | CA375694229 | SURF1 | c.463T>A (p.Ser155Thr) n.409T>A n.453T>A c.136T>A (p.Ser46Thr) | |
| 9 | g.133353802G>A | CA860709300 | SURF1 | c.462C>T (p.Ser154=) n.408C>T n.452C>T c.135C>T (p.Ser45=) | dbSNP gnomAD v4 |
| 9 | g.133353802G= | CA1882635657 | SURF1 | c.462C= (p.Ser154=) n.408C= n.452C= c.135C= (p.Ser45=) | |
| 9 | g.133353803G>A | CA375694230 | SURF1 | c.461C>T (p.Ser154Phe) n.407C>T n.451C>T c.134C>T (p.Ser45Phe) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353803G>C | CA375694232 | SURF1 | c.461C>G (p.Ser154Cys) n.407C>G n.451C>G c.134C>G (p.Ser45Cys) | |
| 9 | g.133353803G= | CA1882635658 | SURF1 | c.461C= (p.Ser154=) n.407C= n.451C= c.134C= (p.Ser45=) | |
| 9 | g.133353803G>T | CA375694231 | SURF1 | c.461C>A (p.Ser154Tyr) n.407C>A n.451C>A c.134C>A (p.Ser45Tyr) | |
| 9 | g.133353804A>C | CA375694233 | SURF1 | c.460T>G (p.Ser154Ala) n.406T>G n.450T>G c.133T>G (p.Ser45Ala) | |
| 9 | g.133353804A>G | CA375694235 | SURF1 | c.460T>C (p.Ser154Pro) n.406T>C n.450T>C c.133T>C (p.Ser45Pro) | |
| 9 | g.133353804A>T | CA375694234 | SURF1 | c.460T>A (p.Ser154Thr) n.406T>A n.450T>A c.133T>A (p.Ser45Thr) | |
| 9 | g.133353805G>T | CA2697558166 | SURF1 | c.459C>A (p.Ser153=) n.405C>A n.449C>A c.132C>A (p.Ser44=) | ClinVar |
| 9 | g.133353806G>A | CA375694236 | SURF1 | c.458C>T (p.Ser153Phe) n.404C>T n.448C>T c.131C>T (p.Ser44Phe) | gnomAD v4 |
| 9 | g.133353806G>C | CA375694238 | SURF1 | c.458C>G (p.Ser153Cys) n.404C>G n.448C>G c.131C>G (p.Ser44Cys) | |
| 9 | g.133353806G>T | CA375694237 | SURF1 | c.458C>A (p.Ser153Tyr) n.404C>A n.448C>A c.131C>A (p.Ser44Tyr) | |
| 9 | g.133353807A>C | CA375694239 | SURF1 | c.457T>G (p.Ser153Ala) n.403T>G n.447T>G c.130T>G (p.Ser44Ala) | |
| 9 | g.133353807A>G | CA375694240 | SURF1 | c.457T>C (p.Ser153Pro) n.403T>C n.447T>C c.130T>C (p.Ser44Pro) | gnomAD v4 |
| 9 | g.133353807A>T | CA375694241 | SURF1 | c.457T>A (p.Ser153Thr) n.403T>A n.447T>A c.130T>A (p.Ser44Thr) | |
| 9 | g.133353808G>C | CA375694242 | SURF1 | c.456C>G (p.Ile152Met) n.402C>G n.446C>G c.129C>G (p.Ile43Met) | |
| 9 | g.133353808G= | CA1882635660 | SURF1 | c.456C= (p.Ile152=) n.402C= n.446C= c.129C= (p.Ile43=) | |
| 9 | g.133353808G>T | CA200832993 | SURF1 | c.456C>A (p.Ile152=) n.402C>A n.446C>A c.129C>A (p.Ile43=) | ClinVar dbSNP |
| 9 | g.133353809A>C | CA375694243 | SURF1 | c.455T>G (p.Ile152Ser) n.401T>G n.445T>G c.128T>G (p.Ile43Ser) | |
| 9 | g.133353809A>G | CA375694244 | SURF1 | c.455T>C (p.Ile152Thr) n.401T>C n.445T>C c.128T>C (p.Ile43Thr) | |
| 9 | g.133353809A>T | CA375694245 | SURF1 | c.455T>A (p.Ile152Asn) n.401T>A n.445T>A c.128T>A (p.Ile43Asn) | |
| 9 | g.133353810T>A | CA375694246 | SURF1 | c.454A>T (p.Ile152Phe) n.400A>T n.444A>T c.127A>T (p.Ile43Phe) | dbSNP |
| 9 | g.133353810T>C | CA375694248 | SURF1 | c.454A>G (p.Ile152Val) n.400A>G n.444A>G c.127A>G (p.Ile43Val) | gnomAD v4 |
| 9 | g.133353810T>G | CA375694247 | SURF1 | c.454A>C (p.Ile152Leu) n.400A>C n.444A>C c.127A>C (p.Ile43Leu) | |
| 9 | g.133353810T= | CA1882635662 | SURF1 | c.454A= (p.Ile152=) n.400A= n.444A= c.127A= (p.Ile43=) | |
| 9 | g.133353811G>A | CA200832995 | SURF1 | c.453C>T (p.Leu151=) n.399C>T n.443C>T c.126C>T (p.Leu42=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353811G= | CA1882635664 | SURF1 | c.453C= (p.Leu151=) n.399C= n.443C= c.126C= (p.Leu42=) | |
| 9 | g.133353812A= | CA1882635665 | SURF1 | c.452T= (p.Leu151=) n.398T= n.442T= c.125T= (p.Leu42=) | |
| 9 | g.133353812A>C | CA375694249 | SURF1 | c.452T>G (p.Leu151Arg) n.398T>G n.442T>G c.125T>G (p.Leu42Arg) | |
| 9 | g.133353812A>G | CA375694250 | SURF1 | c.452T>C (p.Leu151Pro) n.398T>C n.442T>C c.125T>C (p.Leu42Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353812A>T | CA375694251 | SURF1 | c.452T>A (p.Leu151His) n.398T>A n.442T>A c.125T>A (p.Leu42His) | |
| 9 | g.133353813G>A | CA200832997 | SURF1 | c.451C>T (p.Leu151Phe) n.397C>T n.441C>T c.124C>T (p.Leu42Phe) | dbSNP gnomAD v4 |
| 9 | g.133353813G>C | CA200833000 | SURF1 | c.451C>G (p.Leu151Val) n.397C>G n.441C>G c.124C>G (p.Leu42Val) | dbSNP gnomAD v4 |
| 9 | g.133353813G= | CA1882635667 | SURF1 | c.451C= (p.Leu151=) n.397C= n.441C= c.124C= (p.Leu42=) | |
| 9 | g.133353813G>T | CA375694252 | SURF1 | c.451C>A (p.Leu151Ile) n.397C>A n.441C>A c.124C>A (p.Leu42Ile) | |
| 9 | g.133353814G>T | CA2579498364 | SURF1 | c.450C>A (p.Gly150=) n.396C>A n.440C>A c.123C>A (p.Gly41=) | |
| 9 | g.133353815C>A | CA375694253 | SURF1 | c.449G>T (p.Gly150Val) n.395G>T n.439G>T c.122G>T (p.Gly41Val) | |
| 9 | g.133353815C>G | CA375694254 | SURF1 | c.449G>C (p.Gly150Ala) n.395G>C n.439G>C c.122G>C (p.Gly41Ala) | |
| 9 | g.133353815C>T | CA375694255 | SURF1 | c.449G>A (p.Gly150Asp) n.395G>A n.439G>A c.122G>A (p.Gly41Asp) | gnomAD v4 |
| 9 | g.133353816_133353824del | CA2786166200 | SURF1 | c.441_449del (p.Glu148_Gly150del) n.387_395del n.431_439del c.114_122del (p.Glu39_Gly41del) | |
| 9 | g.133353816C>A | CA375694256 | SURF1 | c.448G>T (p.Gly150Cys) n.394G>T n.438G>T c.121G>T (p.Gly41Cys) | |
| 9 | g.133353816C= | CA1882635670 | SURF1 | c.448G= (p.Gly150=) n.394G= n.438G= c.121G= (p.Gly41=) | |
| 9 | g.133353816C>G | CA375694257 | SURF1 | c.448G>C (p.Gly150Arg) n.394G>C n.438G>C c.121G>C (p.Gly41Arg) | |
| 9 | g.133353816C>T | CA375694258 | SURF1 | c.448G>A (p.Gly150Ser) n.394G>A n.438G>A c.121G>A (p.Gly41Ser) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353817G>A | CA16605564 | SURF1 | c.447C>T (p.Gly149=) n.393C>T n.437C>T c.120C>T (p.Gly40=) | ClinVar dbSNP dbSNP gnomAD v4 COSMIC |
| 9 | g.133353817G= | CA1882635672 | SURF1 | c.447C= (p.Gly149=) n.393C= n.437C= c.120C= (p.Gly40=) | |
| 9 | g.133353818C>A | CA375694259 | SURF1 | c.446G>T (p.Gly149Val) n.392G>T n.436G>T c.119G>T (p.Gly40Val) | |
| 9 | g.133353818C>G | CA375694260 | SURF1 | c.446G>C (p.Gly149Ala) n.392G>C n.436G>C c.119G>C (p.Gly40Ala) | |
| 9 | g.133353818C>T | CA375694261 | SURF1 | c.446G>A (p.Gly149Asp) n.392G>A n.436G>A c.119G>A (p.Gly40Asp) | |
| 9 | g.133353818_133353827delinsCCCTCCCGGG | CA1882635675 | SURF1 | c.437_446delinsCCCGGGAGGG (p.Ala146=) n.383_392delinsCCCGGGAGGG n.427_436delinsCCCGGGAGGG c.110_119delinsCCCGGGAGGG (p.Ala37=) | |
| 9 | g.133353819C>A | CA375694263 | SURF1 | c.445G>T (p.Gly149Cys) n.391G>T n.435G>T c.118G>T (p.Gly40Cys) | |
| 9 | g.133353819C= | CA1882635677 | SURF1 | c.445G= (p.Gly149=) n.391G= n.435G= c.118G= (p.Gly40=) | |
| 9 | g.133353819C>G | CA375694262 | SURF1 | c.445G>C (p.Gly149Arg) n.391G>C n.435G>C c.118G>C (p.Gly40Arg) | |
| 9 | g.133353819C>T | CA200833008 | SURF1 | c.445G>A (p.Gly149Ser) n.391G>A n.435G>A c.118G>A (p.Gly40Ser) | dbSNP dbSNP gnomAD v4 |
| 9 | g.133353827_133353835dup | CA2579498365 | SURF1 | c.437_445dup (p.Glu148_Gly149insAlaArgGlu) n.383_391dup n.427_435dup c.110_118dup (p.Glu39_Gly40insAlaArgGlu) | gnomAD v4 |
| 9 | g.133353827_133353835del | CA200833005 | SURF1 | c.437_445del (p.Ala146_Glu148del) n.383_391del n.427_435del c.110_118del (p.Ala37_Glu39del) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353820C>A | CA375694264 | SURF1 | c.444G>T (p.Glu148Asp) n.390G>T n.434G>T c.117G>T (p.Glu39Asp) | |
| 9 | g.133353820C= | CA1882635680 | SURF1 | c.444G= (p.Glu148=) n.390G= n.434G= c.117G= (p.Glu39=) | |
| 9 | g.133353820C>G | CA200833009 | SURF1 | c.444G>C (p.Glu148Asp) n.390G>C n.434G>C c.117G>C (p.Glu39Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353820C>T | CA2740092916 | SURF1 | c.444G>A (p.Glu148=) n.390G>A n.434G>A c.117G>A (p.Glu39=) | ClinVar |
| 9 | g.133353821T>A | CA375694265 | SURF1 | c.443A>T (p.Glu148Val) n.389A>T n.433A>T c.116A>T (p.Glu39Val) | |
| 9 | g.133353821T>C | CA375694266 | SURF1 | c.443A>G (p.Glu148Gly) n.389A>G n.433A>G c.116A>G (p.Glu39Gly) | |
| 9 | g.133353821T>G | CA375694267 | SURF1 | c.443A>C (p.Glu148Ala) n.389A>C n.433A>C c.116A>C (p.Glu39Ala) | |
| 9 | g.133353822C>A | CA375694268 | SURF1 | c.442G>T (p.Glu148Ter) n.388G>T n.432G>T c.115G>T (p.Glu39Ter) | |
| 9 | g.133353822C>G | CA375694269 | SURF1 | c.442G>C (p.Glu148Gln) n.388G>C n.432G>C c.115G>C (p.Glu39Gln) | |
| 9 | g.133353822C>T | CA375694270 | SURF1 | c.442G>A (p.Glu148Lys) n.388G>A n.432G>A c.115G>A (p.Glu39Lys) | ClinVar gnomAD v4 |
| 9 | g.133353823C= | CA1882635681 | SURF1 | c.441G= (p.Arg147=) n.387G= n.431G= c.114G= (p.Arg38=) | |
| 9 | g.133353823C>T | CA200833011 | SURF1 | c.441G>A (p.Arg147=) n.387G>A n.431G>A c.114G>A (p.Arg38=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133353824C>A | CA375694271 | SURF1 | c.440G>T (p.Arg147Leu) n.386G>T n.430G>T c.113G>T (p.Arg38Leu) | |
| 9 | g.133353824C= | CA1882635683 | SURF1 | c.440G= (p.Arg147=) n.386G= n.430G= c.113G= (p.Arg38=) | |
| 9 | g.133353824C>G | CA375694272 | SURF1 | c.440G>C (p.Arg147Pro) n.386G>C n.430G>C c.113G>C (p.Arg38Pro) | |
| 9 | g.133353824C>T | CA200833013 | SURF1 | c.440G>A (p.Arg147Gln) n.386G>A n.430G>A c.113G>A (p.Arg38Gln) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353825_133353831del | CA2720596899 | SURF1 | c.434_440del (p.Glu145GlyfsTer?) n.380_386del n.424_430del c.107_113del (p.Glu36GlyfsTer?) | dbSNP |
| 9 | g.133353825G>A | CA200833015 | SURF1 | c.439C>T (p.Arg147Trp) n.385C>T n.429C>T c.112C>T (p.Arg38Trp) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353825G>C | CA375694273 | SURF1 | c.439C>G (p.Arg147Gly) n.385C>G n.429C>G c.112C>G (p.Arg38Gly) | |
| 9 | g.133353825G= | CA1882635685 | SURF1 | c.439C= (p.Arg147=) n.385C= n.429C= c.112C= (p.Arg38=) | |
| 9 | g.133353826G>C | CA2692340528 | SURF1 | c.438C>G (p.Ala146=) n.384C>G n.428C>G c.111C>G (p.Ala37=) | gnomAD v4 |
| 9 | g.133353827G>A | CA200833019 | SURF1 | c.437C>T (p.Ala146Val) n.383C>T n.427C>T c.110C>T (p.Ala37Val) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353827G>C | CA375694275 | SURF1 | c.437C>G (p.Ala146Gly) n.383C>G n.427C>G c.110C>G (p.Ala37Gly) | |
| 9 | g.133353827G= | CA1882635688 | SURF1 | c.437C= (p.Ala146=) n.383C= n.427C= c.110C= (p.Ala37=) | |
| 9 | g.133353827G>T | CA375694274 | SURF1 | c.437C>A (p.Ala146Asp) n.383C>A n.427C>A c.110C>A (p.Ala37Asp) | |
| 9 | g.133353828C>A | CA375694276 | SURF1 | c.436G>T (p.Ala146Ser) n.382G>T n.426G>T c.109G>T (p.Ala37Ser) | |
| 9 | g.133353828C>G | CA375694277 | SURF1 | c.436G>C (p.Ala146Pro) n.382G>C n.426G>C c.109G>C (p.Ala37Pro) | |
| 9 | g.133353828C>T | CA375694278 | SURF1 | c.436G>A (p.Ala146Thr) n.382G>A n.426G>A c.109G>A (p.Ala37Thr) | |
| 9 | g.133353829_133353837dup | CA2692340534 | SURF1 | c.428_436dup (p.Glu145_Ala146insValArgGlu) n.374_382dup n.418_426dup c.101_109dup (p.Glu36_Ala37insValArgGlu) | gnomAD v4 |
| 9 | g.133353829C>A | CA375694279 | SURF1 | c.435G>T (p.Glu145Asp) n.381G>T n.425G>T c.108G>T (p.Glu36Asp) | |
| 9 | g.133353829C= | CA1882635691 | SURF1 | c.435G= (p.Glu145=) n.381G= n.425G= c.108G= (p.Glu36=) | |
| 9 | g.133353829C>G | CA375694280 | SURF1 | c.435G>C (p.Glu145Asp) n.381G>C n.425G>C c.108G>C (p.Glu36Asp) | |
| 9 | g.133353829C>T | CA860709366 | SURF1 | c.435G>A (p.Glu145=) n.381G>A n.425G>A c.108G>A (p.Glu36=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133353830T>A | CA375694281 | SURF1 | c.434A>T (p.Glu145Val) n.380A>T n.424A>T c.107A>T (p.Glu36Val) | |
| 9 | g.133353830T>C | CA375694282 | SURF1 | c.434A>G (p.Glu145Gly) n.380A>G n.424A>G c.107A>G (p.Glu36Gly) | |
| 9 | g.133353830T>G | CA375694283 | SURF1 | c.434A>C (p.Glu145Ala) n.380A>C n.424A>C c.107A>C (p.Glu36Ala) | |
| 9 | g.133353831C>A | CA375694284 | SURF1 | c.433G>T (p.Glu145Ter) n.379G>T n.423G>T c.106G>T (p.Glu36Ter) | gnomAD v4 |
| 9 | g.133353831C>G | CA375694285 | SURF1 | c.433G>C (p.Glu145Gln) n.379G>C n.423G>C c.106G>C (p.Glu36Gln) | |
| 9 | g.133353831C>T | CA375694286 | SURF1 | c.433G>A (p.Glu145Lys) n.379G>A n.423G>A c.106G>A (p.Glu36Lys) | |
| 9 | g.133353832C>T | CA2739265147 | SURF1 | c.432G>A (p.Arg144=) n.378G>A n.422G>A c.105G>A (p.Arg35=) | ClinVar |
| 9 | g.133353833C>A | CA375694288 | SURF1 | c.431G>T (p.Arg144Leu) n.377G>T n.421G>T c.104G>T (p.Arg35Leu) | gnomAD v4 |
| 9 | g.133353833C= | CA1882635693 | SURF1 | c.431G= (p.Arg144=) n.377G= n.421G= c.104G= (p.Arg35=) | |
| 9 | g.133353833C>G | CA375694289 | SURF1 | c.431G>C (p.Arg144Pro) n.377G>C n.421G>C c.104G>C (p.Arg35Pro) | |
| 9 | g.133353833C>T | CA375694287 | SURF1 | c.431G>A (p.Arg144Gln) n.377G>A n.421G>A c.104G>A (p.Arg35Gln) | ClinVar dbSNP dbSNP gnomAD v4 |
| 9 | g.133353834G>A | CA200833031 | SURF1 | c.430C>T (p.Arg144Trp) n.376C>T n.420C>T c.103C>T (p.Arg35Trp) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353834G>C | CA375694290 | SURF1 | c.430C>G (p.Arg144Gly) n.376C>G n.420C>G c.103C>G (p.Arg35Gly) | |
| 9 | g.133353834G= | CA1882635695 | SURF1 | c.430C= (p.Arg144=) n.376C= n.420C= c.103C= (p.Arg35=) | |
| 9 | g.133353836A>C | CA375694291 | SURF1 | c.428T>G (p.Val143Gly) n.374T>G n.418T>G c.101T>G (p.Val34Gly) | gnomAD v4 |
| 9 | g.133353836A>G | CA375694292 | SURF1 | c.428T>C (p.Val143Ala) n.374T>C n.418T>C c.101T>C (p.Val34Ala) | |
| 9 | g.133353836A>T | CA375694293 | SURF1 | c.428T>A (p.Val143Asp) n.374T>A n.418T>A c.101T>A (p.Val34Asp) | |
| 9 | g.133353837_133353838del | CA2695211603 | SURF1 | c.427_428del (p.Val143ProfsTer?) n.373_374del n.417_418del c.100_101del (p.Val34ProfsTer?) | |
| 9 | g.133353837C>A | CA375694294 | SURF1 | c.427G>T (p.Val143Phe) n.373G>T n.417G>T c.100G>T (p.Val34Phe) | |
| 9 | g.133353837C= | CA1882635697 | SURF1 | c.427G= (p.Val143=) n.373G= n.417G= c.100G= (p.Val34=) | |
| 9 | g.133353837C>G | CA375694295 | SURF1 | c.427G>C (p.Val143Leu) n.373G>C n.417G>C c.100G>C (p.Val34Leu) | gnomAD v4 |
| 9 | g.133353837C>T | CA200833033 | SURF1 | c.427G>A (p.Val143Ile) n.373G>A n.417G>A c.100G>A (p.Val34Ile) | dbSNP dbSNP gnomAD v4 COSMIC |
| 9 | g.133353837_133353838delinsCA | CA1882635698 | SURF1 | c.426_427delinsTG (p.Pro142=) n.372_373delinsTG n.416_417delinsTG c.99_100delinsTG (p.Pro33=) | |
| 9 | g.133353838del | CA860709394 | SURF1 | c.426del (p.Val143SerfsTer?) n.372del n.416del c.99del (p.Val34SerfsTer?) | dbSNP gnomAD v4 |
| 9 | g.133353838A= | CA1882635700 | SURF1 | c.426T= (p.Pro142=) n.372T= n.416T= c.99T= (p.Pro33=) | |
| 9 | g.133353838A>G | CA1882635701 | SURF1 | c.426T>C (p.Pro142=) n.372T>C n.416T>C c.99T>C (p.Pro33=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353839G>A | CA375694296 | SURF1 | c.425C>T (p.Pro142Leu) n.371C>T n.415C>T c.98C>T (p.Pro33Leu) | |
| 9 | g.133353839G>C | CA200833036 | SURF1 | c.425C>G (p.Pro142Arg) n.371C>G n.415C>G c.98C>G (p.Pro33Arg) | dbSNP gnomAD v4 |
| 9 | g.133353839G= | CA1882635703 | SURF1 | c.425C= (p.Pro142=) n.371C= n.415C= c.98C= (p.Pro33=) | |
| 9 | g.133353839G>T | CA375694297 | SURF1 | c.425C>A (p.Pro142His) n.371C>A n.415C>A c.98C>A (p.Pro33His) | |
| 9 | g.133353840G>A | CA375694298 | SURF1 | c.424C>T (p.Pro142Ser) n.370C>T n.414C>T c.97C>T (p.Pro33Ser) | |
| 9 | g.133353840G>C | CA375694299 | SURF1 | c.424C>G (p.Pro142Ala) n.370C>G n.414C>G c.97C>G (p.Pro33Ala) | |
| 9 | g.133353840G>T | CA375694300 | SURF1 | c.424C>A (p.Pro142Thr) n.370C>A n.414C>A c.97C>A (p.Pro33Thr) | |
| 9 | g.133353841G>A | CA2537356855 | SURF1 | c.423C>T (p.Asp141=) n.369C>T n.413C>T c.96C>T (p.Asp32=) | |
| 9 | g.133353841G>C | CA375694301 | SURF1 | c.423C>G (p.Asp141Glu) n.369C>G n.413C>G c.96C>G (p.Asp32Glu) | gnomAD v4 |
| 9 | g.133353841G= | CA1882635705 | SURF1 | c.423C= (p.Asp141=) n.369C= n.413C= c.96C= (p.Asp32=) | |
| 9 | g.133353841G>T | CA375694302 | SURF1 | c.423C>A (p.Asp141Glu) n.369C>A n.413C>A c.96C>A (p.Asp32Glu) | dbSNP gnomAD v4 |
| 9 | g.133353842T>A | CA375694303 | SURF1 | c.422A>T (p.Asp141Val) n.368A>T n.412A>T c.95A>T (p.Asp32Val) | |
| 9 | g.133353842T>C | CA375694304 | SURF1 | c.422A>G (p.Asp141Gly) n.368A>G n.412A>G c.95A>G (p.Asp32Gly) | gnomAD v4 |
| 9 | g.133353842T>G | CA375694305 | SURF1 | c.422A>C (p.Asp141Ala) n.368A>C n.412A>C c.95A>C (p.Asp32Ala) | |
| 9 | g.133353843C>A | CA375694306 | SURF1 | c.421G>T (p.Asp141Tyr) n.367G>T n.411G>T c.94G>T (p.Asp32Tyr) | |
| 9 | g.133353843C>G | CA375694307 | SURF1 | c.421G>C (p.Asp141His) n.367G>C n.411G>C c.94G>C (p.Asp32His) | |
| 9 | g.133353843C>T | CA375694308 | SURF1 | c.421G>A (p.Asp141Asn) n.367G>A n.411G>A c.94G>A (p.Asp32Asn) | |
| 9 | g.133353845A>C | CA375694309 | SURF1 | c.419T>G (p.Val140Gly) n.365T>G n.409T>G c.92T>G (p.Val31Gly) | |
| 9 | g.133353845A>G | CA375694310 | SURF1 | c.419T>C (p.Val140Ala) n.365T>C n.409T>C c.92T>C (p.Val31Ala) | |
| 9 | g.133353845A>T | CA375694311 | SURF1 | c.419T>A (p.Val140Glu) n.365T>A n.409T>A c.92T>A (p.Val31Glu) | |
| 9 | g.133353846C>A | CA375694312 | SURF1 | c.418G>T (p.Val140Leu) n.364G>T n.408G>T c.91G>T (p.Val31Leu) | |
| 9 | g.133353846C>G | CA375694313 | SURF1 | c.418G>C (p.Val140Leu) n.364G>C n.408G>C c.91G>C (p.Val31Leu) | |
| 9 | g.133353846C>T | CA375694314 | SURF1 | c.418G>A (p.Val140Met) n.364G>A n.408G>A c.91G>A (p.Val31Met) | gnomAD v4 |
| 9 | g.133353847C>A | CA375694315 | SURF1 | c.417G>T (p.Met139Ile) n.363G>T n.407G>T c.90G>T (p.Met30Ile) | |
| 9 | g.133353847C= | CA1882635707 | SURF1 | c.417G= (p.Met139=) n.363G= n.407G= c.90G= (p.Met30=) | |
| 9 | g.133353847C>G | CA375694317 | SURF1 | c.417G>C (p.Met139Ile) n.363G>C n.407G>C c.90G>C (p.Met30Ile) | dbSNP |
| 9 | g.133353847C>T | CA375694316 | SURF1 | c.417G>A (p.Met139Ile) n.363G>A n.407G>A c.90G>A (p.Met30Ile) | |
| 9 | g.133353848A= | CA1882635709 | SURF1 | c.416T= (p.Met139=) n.362T= n.406T= c.89T= (p.Met30=) | |
| 9 | g.133353848A>C | CA375694318 | SURF1 | c.416T>G (p.Met139Arg) n.362T>G n.406T>G c.89T>G (p.Met30Arg) | |
| 9 | g.133353848A>G | CA200833039 | SURF1 | c.416T>C (p.Met139Thr) n.362T>C n.406T>C c.89T>C (p.Met30Thr) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353848A>T | CA375694319 | SURF1 | c.416T>A (p.Met139Lys) n.362T>A n.406T>A c.89T>A (p.Met30Lys) | |
| 9 | g.133353849T>A | CA375694320 | SURF1 | c.415A>T (p.Met139Leu) n.361A>T n.405A>T c.88A>T (p.Met30Leu) | |
| 9 | g.133353849T>C | CA375694321 | SURF1 | c.415A>G (p.Met139Val) n.361A>G n.405A>G c.88A>G (p.Met30Val) | gnomAD v4 |
| 9 | g.133353849T>G | CA375694322 | SURF1 | c.415A>C (p.Met139Leu) n.361A>C n.405A>C c.88A>C (p.Met30Leu) | |
| 9 | g.133353850G>A | CA1129732313 | SURF1 | c.414C>T (p.Thr138=) n.360C>T n.404C>T c.87C>T (p.Thr29=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353850G= | CA1882635711 | SURF1 | c.414C= (p.Thr138=) n.360C= n.404C= c.87C= (p.Thr29=) | |
| 9 | g.133353851G>A | CA375694323 | SURF1 | c.413C>T (p.Thr138Ile) n.359C>T n.403C>T c.86C>T (p.Thr29Ile) | dbSNP gnomAD v4 |
| 9 | g.133353851G>C | CA375694324 | SURF1 | c.413C>G (p.Thr138Ser) n.359C>G n.403C>G c.86C>G (p.Thr29Ser) | |
| 9 | g.133353851G= | CA1882635713 | SURF1 | c.413C= (p.Thr138=) n.359C= n.403C= c.86C= (p.Thr29=) | |
| 9 | g.133353851G>T | CA375694325 | SURF1 | c.413C>A (p.Thr138Asn) n.359C>A n.403C>A c.86C>A (p.Thr29Asn) | |
| 9 | g.133353852T>A | CA375694326 | SURF1 | c.412A>T (p.Thr138Ser) n.358A>T n.402A>T c.85A>T (p.Thr29Ser) | |
| 9 | g.133353852T>C | CA375694327 | SURF1 | c.412A>G (p.Thr138Ala) n.358A>G n.402A>G c.85A>G (p.Thr29Ala) | |
| 9 | g.133353852T>G | CA375694328 | SURF1 | c.412A>C (p.Thr138Pro) n.358A>C n.402A>C c.85A>C (p.Thr29Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353852T= | CA1882635715 | SURF1 | c.412A= (p.Thr138=) n.358A= n.402A= c.85A= (p.Thr29=) | |
| 9 | g.133353854C>A | CA375694330 | SURF1 | c.410G>T (p.Arg137Leu) n.356G>T n.400G>T c.83G>T (p.Arg28Leu) | |
| 9 | g.133353854C= | CA1882635719 | SURF1 | c.410G= (p.Arg137=) n.356G= n.400G= c.83G= (p.Arg28=) | |
| 9 | g.133353854C>G | CA375694329 | SURF1 | c.410G>C (p.Arg137Pro) n.356G>C n.400G>C c.83G>C (p.Arg28Pro) | |
| 9 | g.133353854C>T | CA200833041 | SURF1 | c.410G>A (p.Arg137Gln) n.356G>A n.400G>A c.83G>A (p.Arg28Gln) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353855G>A | CA324957 | SURF1 | c.409C>T (p.Arg137Trp) n.355C>T n.399C>T c.82C>T (p.Arg28Trp) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353855G>C | CA375694331 | SURF1 | c.409C>G (p.Arg137Gly) n.355C>G n.399C>G c.82C>G (p.Arg28Gly) | |
| 9 | g.133353855G= | CA1882635722 | SURF1 | c.409C= (p.Arg137=) n.355C= n.399C= c.82C= (p.Arg28=) | |
| 9 | g.133353857G>A | CA375694332 | SURF1 | c.407C>T (p.Pro136Leu) n.353C>T n.397C>T c.80C>T (p.Pro27Leu) | ClinVar gnomAD v4 |
| 9 | g.133353857G>C | CA375694333 | SURF1 | c.407C>G (p.Pro136Arg) n.353C>G n.397C>G c.80C>G (p.Pro27Arg) | |
| 9 | g.133353857G>T | CA375694334 | SURF1 | c.407C>A (p.Pro136His) n.353C>A n.397C>A c.80C>A (p.Pro27His) | |
| 9 | g.133353858G>A | CA200833043 | SURF1 | c.406C>T (p.Pro136Ser) n.352C>T n.396C>T c.79C>T (p.Pro27Ser) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353858G>C | CA375694335 | SURF1 | c.406C>G (p.Pro136Ala) n.352C>G n.396C>G c.79C>G (p.Pro27Ala) | |
| 9 | g.133353858G= | CA1882635724 | SURF1 | c.406C= (p.Pro136=) n.352C= n.396C= c.79C= (p.Pro27=) | |
| 9 | g.133353858G>T | CA375694336 | SURF1 | c.406C>A (p.Pro136Thr) n.352C>A n.396C>A c.79C>A (p.Pro27Thr) | |
| 9 | g.133353859C>A | CA375694337 | SURF1 | c.405G>T (p.Met135Ile) n.351G>T n.395G>T c.78G>T (p.Met26Ile) | |
| 9 | g.133353859C>G | CA375694338 | SURF1 | c.405G>C (p.Met135Ile) n.351G>C n.395G>C c.78G>C (p.Met26Ile) | |
| 9 | g.133353859C>T | CA375694339 | SURF1 | c.405G>A (p.Met135Ile) n.351G>A n.395G>A c.78G>A (p.Met26Ile) | |
| 9 | g.133353860A>C | CA375694341 | SURF1 | c.404T>G (p.Met135Arg) n.350T>G n.394T>G c.77T>G (p.Met26Arg) | |
| 9 | g.133353860A>G | CA375694342 | SURF1 | c.404T>C (p.Met135Thr) n.350T>C n.394T>C c.77T>C (p.Met26Thr) | |
| 9 | g.133353860A>T | CA375694340 | SURF1 | c.404T>A (p.Met135Lys) n.350T>A n.394T>A c.77T>A (p.Met26Lys) | |
| 9 | g.133353861T>A | CA375694345 | SURF1 | c.403A>T (p.Met135Leu) n.349A>T n.393A>T c.76A>T (p.Met26Leu) | |
| 9 | g.133353861T>C | CA375694343 | SURF1 | c.403A>G (p.Met135Val) n.349A>G n.393A>G c.76A>G (p.Met26Val) | gnomAD v4 |
| 9 | g.133353861T>G | CA375694344 | SURF1 | c.403A>C (p.Met135Leu) n.349A>C n.393A>C c.76A>C (p.Met26Leu) | |
| 9 | g.133353862C>A | CA375694346 | SURF1 | c.402G>T (p.Met134Ile) n.348G>T n.392G>T c.75G>T (p.Met25Ile) | |
| 9 | g.133353862C= | CA1882635726 | SURF1 | c.402G= (p.Met134=) n.348G= n.392G= c.75G= (p.Met25=) | |
| 9 | g.133353862C>G | CA375694347 | SURF1 | c.402G>C (p.Met134Ile) n.348G>C n.392G>C c.75G>C (p.Met25Ile) | |
| 9 | g.133353862C>T | CA375694348 | SURF1 | c.402G>A (p.Met134Ile) n.348G>A n.392G>A c.75G>A (p.Met25Ile) | dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353862_133353864delinsCAT | CA1882635727 | SURF1 | c.400_402delinsATG (p.Met134=) n.346_348delinsATG n.390_392delinsATG c.73_75delinsATG (p.Met25=) | |
| 9 | g.133353863A>C | CA375694349 | SURF1 | c.401T>G (p.Met134Arg) n.347T>G n.391T>G c.74T>G (p.Met25Arg) | |
| 9 | g.133353863A>G | CA375694350 | SURF1 | c.401T>C (p.Met134Thr) n.347T>C n.391T>C c.74T>C (p.Met25Thr) | |
| 9 | g.133353863A>T | CA375694351 | SURF1 | c.401T>A (p.Met134Lys) n.347T>A n.391T>A c.74T>A (p.Met25Lys) | |
| 9 | g.133353866_133353867del | CA860709435 | SURF1 | c.400_401del (p.Met134AspfsTer?) n.346_347del n.390_391del c.73_74del (p.Met25AspfsTer?) | dbSNP gnomAD v4 |
| 9 | g.133353864T>A | CA375694352 | SURF1 | c.400A>T (p.Met134Leu) n.346A>T n.390A>T c.73A>T (p.Met25Leu) | ClinVar dbSNP |
| 9 | g.133353864T>C | CA375694353 | SURF1 | c.400A>G (p.Met134Val) n.346A>G n.390A>G c.73A>G (p.Met25Val) | gnomAD v4 |
| 9 | g.133353864T>G | CA375694354 | SURF1 | c.400A>C (p.Met134Leu) n.346A>C n.390A>C c.73A>C (p.Met25Leu) | |
| 9 | g.133353865A>C | CA375694355 | SURF1 | c.399T>G (p.Tyr133Ter) n.345T>G n.389T>G c.72T>G (p.Tyr24Ter) | |
| 9 | g.133353865A>T | CA375694356 | SURF1 | c.399T>A (p.Tyr133Ter) n.345T>A n.389T>A c.72T>A (p.Tyr24Ter) | |
| 9 | g.133353866T>A | CA375694359 | SURF1 | c.398A>T (p.Tyr133Phe) n.344A>T n.388A>T c.71A>T (p.Tyr24Phe) | |
| 9 | g.133353866T>C | CA375694358 | SURF1 | c.398A>G (p.Tyr133Cys) n.344A>G n.388A>G c.71A>G (p.Tyr24Cys) | ClinVar |
| 9 | g.133353866T>G | CA375694357 | SURF1 | c.398A>C (p.Tyr133Ser) n.344A>C n.388A>C c.71A>C (p.Tyr24Ser) | |
| 9 | g.133353867A>C | CA375694360 | SURF1 | c.397T>G (p.Tyr133Asp) n.343T>G n.387T>G c.70T>G (p.Tyr24Asp) | |
| 9 | g.133353867A>G | CA375694361 | SURF1 | c.397T>C (p.Tyr133His) n.343T>C n.387T>C c.70T>C (p.Tyr24His) | |
| 9 | g.133353867A>T | CA375694362 | SURF1 | c.397T>A (p.Tyr133Asn) n.343T>A n.387T>A c.70T>A (p.Tyr24Asn) | |
| 9 | g.133353868C>T | CA2692340583 | SURF1 | c.396G>A (p.Leu132=) n.342G>A n.386G>A c.69G>A (p.Leu23=) | gnomAD v4 |
| 9 | g.133353869A>C | CA375694363 | SURF1 | c.395T>G (p.Leu132Arg) n.341T>G n.385T>G c.68T>G (p.Leu23Arg) | |
| 9 | g.133353869A>G | CA375694364 | SURF1 | c.395T>C (p.Leu132Pro) n.341T>C n.385T>C c.68T>C (p.Leu23Pro) | |
| 9 | g.133353869A>T | CA375694365 | SURF1 | c.395T>A (p.Leu132Gln) n.341T>A n.385T>A c.68T>A (p.Leu23Gln) | COSMIC |
| 9 | g.133353870G>A | CA2692340584 | SURF1 | c.394C>T (p.Leu132=) n.340C>T n.384C>T c.67C>T (p.Leu23=) | gnomAD v4 |
| 9 | g.133353870G>C | CA375694366 | SURF1 | c.394C>G (p.Leu132Val) n.340C>G n.384C>G c.67C>G (p.Leu23Val) | gnomAD v4 |
| 9 | g.133353870G>T | CA375694367 | SURF1 | c.394C>A (p.Leu132Met) n.340C>A n.384C>A c.67C>A (p.Leu23Met) | |
| 9 | g.133353871C>A | CA375694368 | SURF1 | c.393G>T (p.Glu131Asp) n.339G>T n.383G>T c.66G>T (p.Glu22Asp) | |
| 9 | g.133353871C>G | CA375694369 | SURF1 | c.393G>C (p.Glu131Asp) n.339G>C n.383G>C c.66G>C (p.Glu22Asp) | |
| 9 | g.133353872T>A | CA375694370 | SURF1 | c.392A>T (p.Glu131Val) n.338A>T n.382A>T c.65A>T (p.Glu22Val) | |
| 9 | g.133353872T>C | CA375694371 | SURF1 | c.392A>G (p.Glu131Gly) n.338A>G n.382A>G c.65A>G (p.Glu22Gly) | |
| 9 | g.133353872T>G | CA375694372 | SURF1 | c.392A>C (p.Glu131Ala) n.338A>C n.382A>C c.65A>C (p.Glu22Ala) | |
| 9 | g.133353873C>A | CA375694374 | SURF1 | c.391G>T (p.Glu131Ter) n.337G>T n.381G>T c.64G>T (p.Glu22Ter) | |
| 9 | g.133353873C>G | CA375694375 | SURF1 | c.391G>C (p.Glu131Gln) n.337G>C n.381G>C c.64G>C (p.Glu22Gln) | |
| 9 | g.133353873C>T | CA375694373 | SURF1 | c.391G>A (p.Glu131Lys) n.337G>A n.381G>A c.64G>A (p.Glu22Lys) | |
| 9 | g.133353874C>A | CA375694376 | SURF1 | c.390G>T (p.Lys130Asn) n.336G>T n.380G>T c.63G>T (p.Lys21Asn) | |
| 9 | g.133353874C>G | CA375694377 | SURF1 | c.390G>C (p.Lys130Asn) n.336G>C n.380G>C c.63G>C (p.Lys21Asn) | |
| 9 | g.133353875T>A | CA375694378 | SURF1 | c.389A>T (p.Lys130Met) n.335A>T n.379A>T c.62A>T (p.Lys21Met) | |
| 9 | g.133353875T>C | CA375694379 | SURF1 | c.389A>G (p.Lys130Arg) n.335A>G n.379A>G c.62A>G (p.Lys21Arg) | gnomAD v4 |
| 9 | g.133353875T>G | CA375694380 | SURF1 | c.389A>C (p.Lys130Thr) n.335A>C n.379A>C c.62A>C (p.Lys21Thr) | |
| 9 | g.133353876T>A | CA375694381 | SURF1 | c.388A>T (p.Lys130Ter) n.334A>T n.378A>T c.61A>T (p.Lys21Ter) | |
| 9 | g.133353876T>C | CA375694382 | SURF1 | c.388A>G (p.Lys130Glu) n.334A>G n.378A>G c.61A>G (p.Lys21Glu) | |
| 9 | g.133353876T>G | CA375694383 | SURF1 | c.388A>C (p.Lys130Gln) n.334A>C n.378A>C c.61A>C (p.Lys21Gln) | |
| 9 | g.133353877G>C | CA860709455 | SURF1 | c.387C>G (p.Ser129=) n.333C>G n.377C>G c.60C>G (p.Ser20=) | dbSNP gnomAD v4 |
| 9 | g.133353877G= | CA1882635729 | SURF1 | c.387C= (p.Ser129=) n.333C= n.377C= c.60C= (p.Ser20=) | |
| 9 | g.133353877G>T | CA2697558167 | SURF1 | c.387C>A (p.Ser129=) n.333C>A n.377C>A c.60C>A (p.Ser20=) | ClinVar |
| 9 | g.133353878G>A | CA375694384 | SURF1 | c.386C>T (p.Ser129Phe) n.332C>T n.376C>T c.59C>T (p.Ser20Phe) | |
| 9 | g.133353878G>C | CA375694385 | SURF1 | c.386C>G (p.Ser129Cys) n.332C>G n.376C>G c.59C>G (p.Ser20Cys) | |
| 9 | g.133353878G>T | CA375694386 | SURF1 | c.386C>A (p.Ser129Tyr) n.332C>A n.376C>A c.59C>A (p.Ser20Tyr) | |
| 9 | g.133353879A>C | CA375694389 | SURF1 | c.385T>G (p.Ser129Ala) n.331T>G n.375T>G c.58T>G (p.Ser20Ala) | |
| 9 | g.133353879A>G | CA375694388 | SURF1 | c.385T>C (p.Ser129Pro) n.331T>C n.375T>C c.58T>C (p.Ser20Pro) | |
| 9 | g.133353879A>T | CA375694387 | SURF1 | c.385T>A (p.Ser129Thr) n.331T>A n.375T>A c.58T>A (p.Ser20Thr) | |
| 9 | g.133353880A= | CA1882635731 | SURF1 | c.384T= (p.His128=) n.330T= n.374T= c.57T= (p.His19=) | |
| 9 | g.133353880A>C | CA375694390 | SURF1 | c.384T>G (p.His128Gln) n.330T>G n.374T>G c.57T>G (p.His19Gln) | |
| 9 | g.133353880A>G | CA200833046 | SURF1 | c.384T>C (p.His128=) n.330T>C n.374T>C c.57T>C (p.His19=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353880A>T | CA375694391 | SURF1 | c.384T>A (p.His128Gln) n.330T>A n.374T>A c.57T>A (p.His19Gln) | |
| 9 | g.133353881T>A | CA375694392 | SURF1 | c.383A>T (p.His128Leu) n.329A>T n.373A>T c.56A>T (p.His19Leu) | |
| 9 | g.133353881T>C | CA375694393 | SURF1 | c.383A>G (p.His128Arg) n.329A>G n.373A>G c.56A>G (p.His19Arg) | |
| 9 | g.133353881T>G | CA375694394 | SURF1 | c.383A>C (p.His128Pro) n.329A>C n.373A>C c.56A>C (p.His19Pro) | |
| 9 | g.133353882G>A | CA375694395 | SURF1 | c.382C>T (p.His128Tyr) n.328C>T n.372C>T c.55C>T (p.His19Tyr) | dbSNP |
| 9 | g.133353882G>C | CA375694396 | SURF1 | c.382C>G (p.His128Asp) n.328C>G n.372C>G c.55C>G (p.His19Asp) | |
| 9 | g.133353882G>T | CA375694397 | SURF1 | c.382C>A (p.His128Asn) n.328C>A n.372C>A c.55C>A (p.His19Asn) | |
| 9 | g.133353882_133353884delinsAGG | CA322599 | SURF1 | c.380_382delinsCCT (p.Asp127_His128delinsAlaTyr) n.326_328delinsCCT n.370_372delinsCCT c.53_55delinsCCT (p.Asp18_His19delinsAlaTyr) | ClinVar dbSNP |
| 9 | g.133353882_133353884delinsGGT | CA1882635734 | SURF1 | c.380_382delinsACC (p.Asp127=) n.326_328delinsACC n.370_372delinsACC c.53_55delinsACC (p.Asp18=) | |
| 9 | g.133353883G>A | CA2692340598 | SURF1 | c.381C>T (p.Asp127=) n.327C>T n.371C>T c.54C>T (p.Asp18=) | gnomAD v4 |
| 9 | g.133353883G>C | CA375694398 | SURF1 | c.381C>G (p.Asp127Glu) n.327C>G n.371C>G c.54C>G (p.Asp18Glu) | |
| 9 | g.133353883G>T | CA375694399 | SURF1 | c.381C>A (p.Asp127Glu) n.327C>A n.371C>A c.54C>A (p.Asp18Glu) | |
| 9 | g.133353884T>A | CA375694400 | SURF1 | c.380A>T (p.Asp127Val) n.326A>T n.370A>T c.53A>T (p.Asp18Val) | |
| 9 | g.133353884T>C | CA375694401 | SURF1 | c.380A>G (p.Asp127Gly) n.326A>G n.370A>G c.53A>G (p.Asp18Gly) | |
| 9 | g.133353884T>G | CA200833049 | SURF1 | c.380A>C (p.Asp127Ala) n.326A>C n.370A>C c.53A>C (p.Asp18Ala) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353884T= | CA1882635737 | SURF1 | c.380A= (p.Asp127=) n.326A= n.370A= c.53A= (p.Asp18=) | |
| 9 | g.133353885C>A | CA375694404 | SURF1 | c.379G>T (p.Asp127Tyr) n.325G>T n.369G>T c.52G>T (p.Asp18Tyr) | |
| 9 | g.133353885C>G | CA375694402 | SURF1 | c.379G>C (p.Asp127His) n.325G>C n.369G>C c.52G>C (p.Asp18His) | gnomAD v4 |
| 9 | g.133353885C>T | CA375694403 | SURF1 | c.379G>A (p.Asp127Asn) n.325G>A n.369G>A c.52G>A (p.Asp18Asn) | |
| 9 | g.133353886A= | CA1882635739 | SURF1 | c.378T= (p.Phe126=) n.324T= n.368T= c.51T= (p.Phe17=) | |
| 9 | g.133353886A>C | CA375694405 | SURF1 | c.378T>G (p.Phe126Leu) n.324T>G n.368T>G c.51T>G (p.Phe17Leu) | ClinVar dbSNP |
| 9 | g.133353886A>T | CA375694406 | SURF1 | c.378T>A (p.Phe126Leu) n.324T>A n.368T>A c.51T>A (p.Phe17Leu) | |
| 9 | g.133353887A>C | CA375694407 | SURF1 | c.377T>G (p.Phe126Cys) n.323T>G n.367T>G c.50T>G (p.Phe17Cys) | |
| 9 | g.133353887A>G | CA375694408 | SURF1 | c.377T>C (p.Phe126Ser) n.323T>C n.367T>C c.50T>C (p.Phe17Ser) | |
| 9 | g.133353887A>T | CA375694409 | SURF1 | c.377T>A (p.Phe126Tyr) n.323T>A n.367T>A c.50T>A (p.Phe17Tyr) | gnomAD v4 |
| 9 | g.133353888A>C | CA375694410 | SURF1 | c.376T>G (p.Phe126Val) n.322T>G n.366T>G c.49T>G (p.Phe17Val) | |
| 9 | g.133353888A>G | CA375694411 | SURF1 | c.376T>C (p.Phe126Leu) n.322T>C n.366T>C c.49T>C (p.Phe17Leu) | |
| 9 | g.133353888A>T | CA375694412 | SURF1 | c.376T>A (p.Phe126Ile) n.322T>A n.366T>A c.49T>A (p.Phe17Ile) | |
| 9 | g.133353889G>C | CA200833051 | SURF1 | c.375C>G (p.Cys125Trp) n.321C>G n.365C>G c.48C>G (p.Cys16Trp) | dbSNP |
| 9 | g.133353889G= | CA1882635741 | SURF1 | c.375C= (p.Cys125=) n.321C= n.365C= c.48C= (p.Cys16=) | |
| 9 | g.133353889G>T | CA375694413 | SURF1 | c.375C>A (p.Cys125Ter) n.321C>A n.365C>A c.48C>A (p.Cys16Ter) | |
| 9 | g.133353890C>A | CA375694416 | SURF1 | c.374G>T (p.Cys125Phe) n.320G>T n.364G>T c.47G>T (p.Cys16Phe) | |
| 9 | g.133353890C>G | CA375694414 | SURF1 | c.374G>C (p.Cys125Ser) n.320G>C n.364G>C c.47G>C (p.Cys16Ser) | |
| 9 | g.133353890C>T | CA375694415 | SURF1 | c.374G>A (p.Cys125Tyr) n.320G>A n.364G>A c.47G>A (p.Cys16Tyr) | |
| 9 | g.133353891A>C | CA375694417 | SURF1 | c.373T>G (p.Cys125Gly) n.319T>G n.363T>G c.46T>G (p.Cys16Gly) | |
| 9 | g.133353891A>G | CA375694418 | SURF1 | c.373T>C (p.Cys125Arg) n.319T>C n.363T>C c.46T>C (p.Cys16Arg) | |
| 9 | g.133353891A>T | CA375694419 | SURF1 | c.373T>A (p.Cys125Ser) n.319T>A n.363T>A c.46T>A (p.Cys16Ser) | |
| 9 | g.133353892C>A | CA860709497 | SURF1 | c.372G>T (p.Gly124=) n.318G>T n.362G>T c.45G>T (p.Gly15=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353892C= | CA1882635743 | SURF1 | c.372G= (p.Gly124=) n.318G= n.362G= c.45G= (p.Gly15=) | |
| 9 | g.133353892C>G | CA2692340646 | SURF1 | c.372G>C (p.Gly124=) n.318G>C n.362G>C c.45G>C (p.Gly15=) | gnomAD v4 |
| 9 | g.133353892C>T | CA200833053 | SURF1 | c.372G>A (p.Gly124=) n.318G>A n.362G>A c.45G>A (p.Gly15=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353896dup | CA2786166205 | SURF1 | c.372dup (p.Cys125ValfsTer3) n.318dup n.362dup c.45dup (p.Cys16ValfsTer3) | |
| 9 | g.133353893C>A | CA375694420 | SURF1 | c.371G>T (p.Gly124Val) n.317G>T n.361G>T c.44G>T (p.Gly15Val) | |
| 9 | g.133353893C= | CA1882635746 | SURF1 | c.371G= (p.Gly124=) n.317G= n.361G= c.44G= (p.Gly15=) | |
| 9 | g.133353893C>G | CA375694421 | SURF1 | c.371G>C (p.Gly124Ala) n.317G>C n.361G>C c.44G>C (p.Gly15Ala) | |
| 9 | g.133353893C>T | CA122697 | SURF1 | c.371G>A (p.Gly124Glu) n.317G>A n.361G>A c.44G>A (p.Gly15Glu) | ClinVar dbSNP dbSNP |
| 9 | g.133353894C>A | CA375694422 | SURF1 | c.370G>T (p.Gly124Trp) n.316G>T n.360G>T c.43G>T (p.Gly15Trp) | |
| 9 | g.133353894C= | CA1882635750 | SURF1 | c.370G= (p.Gly124=) n.316G= n.360G= c.43G= (p.Gly15=) | |
| 9 | g.133353894C>G | CA375694423 | SURF1 | c.370G>C (p.Gly124Arg) n.316G>C n.360G>C c.43G>C (p.Gly15Arg) | |
| 9 | g.133353894C>T | CA200833060 | SURF1 | c.370G>A (p.Gly124Arg) n.316G>A n.360G>A c.43G>A (p.Gly15Arg) | dbSNP gnomAD v4 |
| 9 | g.133353895C>A | CA375694424 | SURF1 | c.369G>T (p.Arg123Ser) n.315G>T n.359G>T c.42G>T (p.Arg14Ser) | |
| 9 | g.133353895C= | CA1882635754 | SURF1 | c.369G= (p.Arg123=) n.315G= n.359G= c.42G= (p.Arg14=) | |
| 9 | g.133353895C>G | CA200833062 | SURF1 | c.369G>C (p.Arg123Ser) n.315G>C n.359G>C c.42G>C (p.Arg14Ser) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133353896C>A | CA375694426 | SURF1 | c.368G>T (p.Arg123Met) n.314G>T n.358G>T c.41G>T (p.Arg14Met) | |
| 9 | g.133353896C>G | CA375694427 | SURF1 | c.368G>C (p.Arg123Thr) n.314G>C n.358G>C c.41G>C (p.Arg14Thr) | |
| 9 | g.133353896C>T | CA375694425 | SURF1 | c.368G>A (p.Arg123Lys) n.314G>A n.358G>A c.41G>A (p.Arg14Lys) | |
| 9 | g.133353896_133353897del | CA2499219750 | SURF1 | c.367_368del (p.Arg123GlyfsTer4) n.313_314del n.357_358del c.40_41del (p.Arg14GlyfsTer4) | ClinVar dbSNP gnomAD v4 |
| 9 | g.133353896_133353897delinsCT | CA1882635756 | SURF1 | c.367_368delinsAG (p.Arg123=) n.313_314delinsAG n.357_358delinsAG c.40_41delinsAG (p.Arg14=) | |
| 9 | g.133353897del | CA1882635757 | SURF1 | c.367del (p.Arg123GlyfsTer12) n.313del n.357del c.40del (p.Arg14GlyfsTer12) | dbSNP |
| 9 | g.133353897T>A | CA375694428 | SURF1 | c.367A>T (p.Arg123Trp) n.313A>T n.357A>T c.40A>T (p.Arg14Trp) | |
| 9 | g.133353897T>C | CA375694429 | SURF1 | c.367A>G (p.Arg123Gly) n.313A>G n.357A>G c.40A>G (p.Arg14Gly) | |
| 9 | g.133353897T>G | CA2692340656 | SURF1 | c.367A>C (p.Arg123=) n.313A>C n.357A>C c.40A>C (p.Arg14=) | gnomAD v4 |
| 9 | g.133353898G>A | CA10632727 | SURF1 | c.366C>T (p.Val122=) n.312C>T n.356C>T c.39C>T (p.Val13=) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133353898G= | CA1882635760 | SURF1 | c.366C= (p.Val122=) n.312C= n.356C= c.39C= (p.Val13=) |